Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.
Indian Pediatr
;
2011 Sptember; 48(9): 727-729
Article
in English
| IMSEAR
| ID: sea-168960
ABSTRACT
A 6-year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld- Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
Full text:
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Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2011
Type:
Article
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